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  2. academic.oup.com academic.oup.com
    Hemangioblastomas of Central Nervous System: Molecular Genetic Analysis and Clinical Management
    1
    1. ClingenBaseline 29 Oct 2026
      In Patient 1, who was 40 years old and had a cerebellar hemangioblastoma, the P86L missense heterozygous germline mutation was identified in exon 1. The DNA analysis of close relatives did not show affected subjects. This patient was recommended for VHL disease surveillance protocols (15) (Table 4) and developed a retinal hemangioblastoma 4 years after diagnosis. TABLE 4.von Hippel-Lindau protocol for periodical clinical monitoring (7) Open in new tab

      PatientID: 1

      KindredID: 1

      Case: M, 40Y0M, Italian

      DiseaseAssertion: VHL

      FamilyInfo: None - The DNA analysis of close relatives did not show affected subjects

      CasePresentingHPOs: HP:0006880; HP:0009711 (cerebellar hemangioblastoma; retinal capillary hemangioblastoma)

      CaseHPOFreeText: also had high intercranial pressure; developed a retinal hemangioblastoma 4 years after diagnosis (diagnosis at 32Y0M; rHAB at 36Y0M)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P86L (c.257C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 182977 https://www.ncbi.nlm.nih.gov/clinvar/variation/182977/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      Ethnicity:Italian DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:cerebellarhemangioblastoma:32 DiseaseEntity:VHL AgeOfPresentation:retinalcapillaryhemangioma:36 ProteinPosition:86 CivicName:P86L(c.257C>T) cDNAposition:257 AminoAcidChange:PROtoLEU MutationType:missense_variant;transition ClinVarID:182977 ClinVarID:Yes Mutation:Germline AssumedRefSeq:NM_000551.3 NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic.oup.com/neurosurgery/article-abstract/56/6/1215/2744028
  3. Oct 2026
  4. www-sciencedirect-com.proxy1.lib.uwo.ca www-sciencedirect-com.proxy1.lib.uwo.ca
    Higher Prevalence of Novel Mutations in VHL Gene in Chinese Von Hippel-Lindau Disease Patients
    1
    1. ClingenBaseline 22 Oct 2026
      Family 6+2c.349T > G, p.Trp117GlyYes136444440–44

      PatientID: None

      KindredID: 6

      Case: Sex Unknown, 44Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Positive. Patient's son who was confirmed to have this mutation presented with hemangioblastoma at age 12. The patient's mother, aunt, grandmother, brother 1 and 2, and sister 3 all passed before they could undergo genetic testing but had a variety of VHL presentations. The patient's first sister and third nephew were confirmed to have this genetic mutation. The first sister presented with abnormality of the pancreas at age 53. The nephew had hemangioblastoma and retinal angioma at age 13. Additional familial phenotypes can be found in Table 1.

      CasePresentingHPOs: HP:0010797, HP:0005584, HP:0001732, HP:0009711 (hemangioblastoma, renal cell carcinoma, abnormality of the pancreas, retinal capillary hemangioma)

      CaseHPOFreeText: The patient presented with hemangioblastoma at age 36. At age 40 he/she presented with pancreatic cysts or tumours. At age 44 the patient had retinal angioma, renal cell carcinoma, and epididymal or ovarian cystadenoma.

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 29330336

      Variant: p.W117G (c.349T>G)

      LegacyVariant:N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 862346 https://www.ncbi.nlm.nih.gov/clinvar/variation/862346/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName:W117G (c.349T>G)

      MultipleGeneVariants: N/A

      MutationType:missense_variant;transversion InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL Familial Ethnicity:Chinese DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:abnormalityofthepancreas DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:Hemangioblastoma:36 AgeOfPresentation:abnormalityofthepancreas:40 AgeOfPresentation:RetinalCapillaryHemangioma:44 AgeOfPresentation:renalcellcarcinoma:44 cDNAposition:349 ProteinPosition:117 AminoAcidChange:TRPtoGLY ClinVarID:862346 ClinVarID:Yes CivicName:W117G(c.349T>G) inferred_gene_hgnc:16915 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    www-sciencedirect-com.proxy1.lib.uwo.ca/science/article/pii/S0090429513014969